Pengaruh Polimorfisme Gen terhadap Risiko Penyakit Gagal Ginjal Kronis: Narrative Review

Penulis

  • Dewa Ayu Sri Handani Universitas Mahasaraswati Denpasar
  • Fitria Megawati Fakultas Farmasi Universitas Mahasaraswati Denpasar

DOI:

https://doi.org/10.36733/usadha.v3i3.10956

Kata Kunci:

gagal ginjal kronis, genetik, polimorfose gen, SNP

Abstrak

Gagal ginjal kronis (GGK) merupakan masalah kesehatan global yang terus meningkat, khususnya di Indonesia. GGK ditandai oleh penurunan fungsi ginjal yang bersifat progresif dan ireversibel, dengan diabetes melitus dan hipertensi sebagai faktor risiko utama. Polimorfisme gen yaitu variasi dalam sekuens DNA yang mempengaruhi fungsi gen dan ekspresi protein, memainkan peran penting dalam risiko dan perkembangan GGK. Studi ini meninjau peran polimorfisme genetik terhadap risiko GGK berdasarkan literatur yang tersedia. Narrative review ini menelusuri artikel ilmiah dari database meliputi PubMed, ScienceDirect, Google Scholar, dan Scopus, dengan kata kunci terkait polimorfisme genetik dan GGK. Dari 441 artikel yang ditemukan, seleksi dilakukan berdasarkan relevansi, jumlah subjek, dan kelengkapan artikel. Beberapa bentuk polimorfisme gen menunjukkan adanya hubungan yang signifikan terhadap peningkatan risiko gagal ginjal kronis, termasuk Renalase (rs2296545), GSTO1 (rs2164624), GSTO2, MMP3 (rs35068180), dan MGP (rs4236), CYP24A1, GPX1, UMOD, CYP2C8, CYP4A11, EPHX2, SPP1, dan BGLAP. Polimorfisme ini mempengaruhi mekanisme seperti regulasi tekanan darah, stres oksidatif, inflamasi, dan kalsifikasi jaringan, yang semuanya berkontribusi terhadap perkembangan GGK.

Disimpulkan bahwa polimorfisme genetik memainkan peran penting dalam risiko GGK, memberikan wawasan untuk pendekatan medis yang lebih personal dalam mendiagnosis, mencegah, dan merawat kondisi ini. Temuan ini mendukung pengembangan strategi pengobatan berbasis genetik yang lebih efektif di masa depan.

Kata Kunci: gagal ginjal kronis, genetic, polimorfisme gen, SNP

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31-12-2024